Rosanna Weksberg (R Weksberg)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 54

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

European journal of human genetics : EJHG

Clinical cancer research : an official journal of the American Association for Cancer Research

American journal of medical genetics. Part A

Cancer research communications

This page only lists publications with an associated author ORCID identifier.

Publications

Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage. Molecular genetics & genomic medicine 12 (2) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack J Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Update on cancer predisposition syndromes and surveillance guidelines for childhood brain tumors. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage. Molecular genetics & genomic medicine 12 (2) (2024)
Junne Kamihara, Lisa R Diller, William D Foulkes, Orli Michaeli, Yoshiko Nakano, Kristian W Pajtler, Melissa R Perrino, Sarah R Scollon, Douglas R Stewart, Stephan D Voss, Rosanna Weksberg, Jordan R Hansford, Garrett M Brodeur
Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack J Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors. Clinical cancer research : an official journal of the American Association for Cancer Research 30 (11) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack J Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors. Clinical cancer research : an official journal of the American Association for Cancer Research 30 (11) (2024)
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, null null, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Eggermann Thomas, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Martin Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R. Lupski, Benjamin Odermatt, Alina C Hilger
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine 9 (1) (2024)
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack J Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors. Clinical cancer research : an official journal of the American Association for Cancer Research 30 (11) (2024)
Junne Kamihara, Lisa R Diller, William D Foulkes, Orli Michaeli, Yoshiko Nakano, Kristian W Pajtler, Melissa R Perrino, Sarah R Scollon, Douglas R Stewart, Stephan D Voss, Rosanna Weksberg, Jordan R Hansford, Garrett M Brodeur
Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop. Clinical cancer research : an official journal of the American Association for Cancer Research 30 (15) (2024)
Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage. Molecular genetics & genomic medicine 12 (2) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Melissa R Perrino, Anirban Das, Sarah R Scollon, Sarah G Mitchell, Mary-Louise C Greer, Marielle E Yohe, Jordan R Hansford, Jennifer M Kalish, Kris Ann P Schultz, Suzanne P MacFarland, Wendy K Kohlmann, Philip J Lupo, Kara N Maxwell, Stefan M Pfister, Rosanna Weksberg, Orli Michaeli, Marjolijn C J Jongmans, Gail E Tomlinson, Jack J Brzezinski, Uri Tabori, Gina M Ney, Karen W Gripp, Andrea M Gross, Brigitte C Widemann, Douglas R Stewart, Emma Roisin Woodward, Christian Peter Kratz
Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies. Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack J Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors. Clinical cancer research : an official journal of the American Association for Cancer Research 30 (11) (2024)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Leanne de Kock, Alexanne Cuillerier, Meredith Gillespie, Madeline Couse, Taila Hartley, Wendy Mears, Francois P Bernier, Albert E Chudley, Patrick Frosk, Sarah M Nikkel, A Micheil Innes, Julie Lauzon, Maryann Thomas, Andrea Guerin, Christine M Armour, Rosanna Weksberg, James N Scott, Debra Watkins, Shirley Harvey, Cheryl Cytrynbaum, null null, Kristin D Kernohan, Kym M Boycott
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach. American journal of medical genetics. Part A (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Alexandre White-Brown, Sanaa Choufani, null null, Rosanna Weksberg, David A Dyment
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder. American journal of medical genetics. Part A (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack J Brzezinski, Ping Luo, Jordan R Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L Finlay, Kim E Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy K Kohlmann, Kelvin César de Andrade, Payal P Khincha, Sharon A Savage, Joshua D Schiffman, Rosanna Weksberg, Trevor J Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome. Cancer research communications 3 (5) (2023)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Eggermann Thomas, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maïthé Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R Maher, Matthias Begemann, Miriam Elbracht
Imprinting disorders. Nature reviews. Disease primers 9 (1) (2023)
Nicole D Gehring, Catherine S Birken, Stacey Belanger, Tracey Bridger, Jean-Pierre Chanoine, William T Gibson, Stasia Hadjiyannakis, Jess Haines, Jill K Hamilton, Andrea M Haqq, Melanie Henderson, Josephine Ho, Brittany Irvine, Laurent Legault, Paola Luca, Jonathon Maguire, Amy C McPherson, Katherine Morrison, Gita Wahi, Rosanna Weksberg, Lonnie Zwaigenbaum, Geoff Denis Charles Ball
Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study. Paediatrics & child health 28 (2) (2022)
Ashish Marwaha, Gregory Costain, Cheryl Cytrynbaum, Roberto Mendoza-Londono, Lauren Chad, Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Rosanna Weksberg
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder. American journal of medical genetics. Part A 188 (5) (2022)
Korbinian Maria Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Matthias Elstner, Thomas Meitinger, Jehan Suleiman, Ayman W. El-Hattab
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human molecular genetics 31 (18) (2022)
Nicole D Gehring, Catherine S Birken, Stacey Belanger, Tracey Bridger, Jean-Pierre Chanoine, William T Gibson, Stasia Hadjiyannakis, Jess Haines, Jill K Hamilton, Andrea M Haqq, Melanie Henderson, Josephine Ho, Brittany Irvine, Laurent Legault, Paola Luca, Jonathon Maguire, Amy C McPherson, Katherine Morrison, Gita Wahi, Rosanna Weksberg, Lonnie Zwaigenbaum, Geoff Denis Charles Ball
Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study. Paediatrics & child health 28 (2) (2022)
Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan Alkuraya, Stephen W Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Neves, Sergio Sousa, Rosanna Weksberg
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Human molecular genetics (2022)
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Elizabeth Wei, Rebecca R Kianmahd, Anna Yu, Lauren Chad, Gregory Costain, Wen-Hann Tan, Stephen W Scherer, Valerie A Arboleda, Bianca E Russell, Rosanna Weksberg
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes. European journal of human genetics : EJHG 30 (6) (2022)
Michelle T Siu, Sarah J Goodman, Isaac Yellan, Darci T Butcher, Maryam Jangjoo, Daria Grafodatskaya, Rageen Rajendram, Youliang Lou, Rujun Zhang, Chunhua Zhao, Rob Nicolson, Stelios Georgiades, Peter Szatmari, Stephen W Scherer, Wendy Roberts, Evdokia Anagnostou, Rosanna Weksberg
DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders. Journal of autism and developmental disorders 51 (10) (2021)
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina B Gold, Dong Li, Hans T Bjornsson, Julie S Cohen, Jill A Fahrner, Ali Fatemi, Jacqueline R Harris, Catherine Nowak, Cathy A Stevens, Katheryn Grand, Margaret G Au, John M Graham, Pedro A Sanchez-Lara, Miguel Del Campo, Marilyn C Jones, Omar A Abdul-Rahman, Fowzan Sami Alkuraya, Jennifer A Bassetti, Katherine L Bergstrom, Elizabeth Joyce Bhoj, Sarah Dugan, Julie D Kaplan, Nada Derar, Karen W Gripp, Natalie S Hauser, A Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J Nowaczyk, Zuhair Rahbeeni, Shay Ben-Shachar, Joseph T Shieh, Anne Slavotinek, Andrew K Sobering, Mary-Alice Abbott, Dawn C Allain, Louise Amlie-Wolf, Ping Yee Billie Au, Emma C Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A Bernstein, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison J Eaton, Josue A Flores-Daboub, Holly Dubbs, Carolyn A Felix, Chin-To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui-Yan Kwok, Rebekah K Jobling, Amy E Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D Ross McLeod, Frank D Mentch, Kelly Minks, Colleen Muraresku, Stanley F Nelson, Patrizia Porazzi, Pavel N Pichurin, Nina N Powell-Hamilton, Zoe Powis, Alyssa L Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Janelle Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J Zand, Marni J Falk, Hakon H Hakonarson, Elaine H Zackai, Fabiola Quintero-Rivera
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American journal of medical genetics. Part A 185 (6) (2021)
Natali S Sobel Naveh, Daniel F Deegan, Jacklyn Huhn, Emily Traxler, Yemin Lan, Rosanna Weksberg, Arupa Ganguly, Nora Engel, Jennifer M Kalish
The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome. Nucleic acids research 49 (11) (2021)
Sanaa Choufani, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman, Rosanna Weksberg
Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. Genes 12 (2) (2021)
Jack Brzezinski, Sanaa Choufani, Rodrigo Romao, Cheryl Shuman, Haiying Chen, Joanna Cunanan, Darius Bagli, Ronald Grant, Armando Lorenzo, Rosanna Weksberg
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses. British journal of cancer 124 (2) (2020)
Andrei L Turinsky, Sanaa Choufani, Kevin Lu, Da Liu, Pouria Mashouri, Daniel Min, Rosanna Weksberg, Michael Brudno
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases. Human mutation 41 (10) (2020)
M T Siu, D T Butcher, A L Turinsky, C Cytrynbaum, D J Stavropoulos, S Walker, O Caluseriu, M Carter, Y Lou, R Nicolson, S Georgiades, P Szatmari, E Anagnostou, S W Scherer, S Choufani, M Brudno, Rosanna Weksberg
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clinical epigenetics 11 (1) (2019)
Sharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, Kit S Yeung, Brian H Y Chung, Ho-Ming Luk, Nataliya Tkachenko, Sanaa Choufani, Rosanna Weksberg, Elena Lopez-Rangel, null null, Kathleen Brown, Margarita S Saenz, Shayna Svihovec, Shawn E McCandless, Lynne M Bird, Aixa Gonzalez Garcia, Michael J Gambello, Kirsty McWalter, Rhonda E Schnur, Jianghong An, Steven J M Jones, Sanjiv K Bhalla, Hailey Pinz, Stephen R Braddock, William T Gibson
Rare SUZ12 variants commonly cause an overgrowth phenotype. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, Clare L Allen, David J Amor, Anna Ardissone, Siddharth Banka, Alexia Bourgois, Christine Coubes, Cheryl Cytrynbaum, Laurence Olivier-Faivre, Gerard Marion, Rachel Horton, Dieter Kotzot, Guillermo Lay-Son, Melissa Lees, Karen Jaqueline Low, Ho-Ming Luk, Paul Mark, Allyn McConkie-Rosell, Marie McDonald, John G Pappas, Christophe Phillipe, Deborah Shears, Brian Skotko, Fiona Stewart, Helen Stewart, I Karen Temple, Frederic T Mau-Them, Ricardo A Verdugo, Rosanna Weksberg, Yuri A Zarate, John M Graham, Katrina Tatton-Brown
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. American journal of medical genetics. Part A 179 (10) (2019)
Cheryl Cytrynbaum, Sanaa Choufani, Rosanna Weksberg
Epigenetic signatures in overgrowth syndromes: Translational opportunities. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)